G87R (p.Gly87Arg) variant of TTR (Transthyretin)
G87R (p.Gly87Arg) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyloidosis, hereditary systemic 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G87R (p.Gly87Arg) variant details
- p.Gly87Arg
- rs11541799
- ClinGen CA402157004
- ClinVar RCV001303075
- ClinVar RCV004793397
- Likely pathogenic
- Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Amyloidosis, hereditary systemic 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)